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Select item 104038721.

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

Mei-Yan Chan, Julaina Abdul Jalil, Yusnita Yakob, Siti Aishah Abdul Wahab, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, Huey-Yin Leong, Hui-Bein Chew, Jeya Bawani Sivabalakrishnan, Lock-Hock Ngu

Orphanet J Rare Dis. 2023; 18: 231. Published online 2023 Aug 4. doi: 10.1186/s13023-023-02848-6

PMCID:: PMC10403872

Abstract Article PDF–1.4M

Select item 103623822.

Phase I study of liver depot gene therapy in late-onset Pompe disease

Edward C. Smith, Sam Hopkins, Laura E. Case, Ming Xu, Crista Walters, Stephanie Dearmey, Sang-oh Han, Tracy G. Spears, Jessica A. Chichester, Edward H. Bossen, Christoph P. Hornik, Jennifer L. Cohen, Deeksha Bali, Priya S. Kishnani, Dwight D. Koeberl

Mol Ther. 2023 Jul 5; 31(7): 1994–2004. Published online 2023 Feb 18. doi: 10.1016/j.ymthe.2023.02.014

PMCID:: PMC10362382

Abstract Article PDF–2.6M

Select item 102374223.

TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing

Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan

Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233

PMCID:: PMC10237422

Abstract Article PDF–23M

Select item 97510864.

CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease

Shih-hsin Kan, Jeffrey Y. Huang, Jerry Harb, Allisandra Rha, Nancy D. Dalton, Chloe Christensen, Yunghang Chan, Jeremy Davis-Turak, Jonathan Neumann, Raymond Y. Wang

Sci Rep. 2022; 12: 21576. Published online 2022 Dec 14. doi: 10.1038/s41598-022-25914-8

PMCID:: PMC9751086

Abstract Article PDF–3.9M

Select item 94652915.

Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases

Rui Dong, Xuxia Wei, Kaihui Zhang, Fengling Song, Yuqiang Lv, Min Gao, Dong Wang, Jian Ma, Zhongtao Gai, Yi Liu

Front Genet. 2022; 13: 932760. Published online 2022 Aug 29. doi: 10.3389/fgene.2022.932760

PMCID:: PMC9465291

Abstract Article PDF–1.5M

Select item 93100536.

Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32–13 T > G variant

Mrudu Herbert, Laura E. Case, Mugdha Rairikar, Heidi Cope, Lauren Bailey, Stephanie L. Austin, Priya S. Kishnani

Mol Genet Metab. Author manuscript; available in PMC 2022 Jul 25.

Published in final edited form as: Mol Genet Metab. 2019 Feb; 126(2): 106–116. Published online 2018 Aug 23. doi: 10.1016/j.ymgme.2018.08.009

PMCID:: PMC9310053

Abstract Article PDF–458K

Select item 92929027.

Broad variation in phenotypes for common GAA genotypes in Pompe disease

Monica Y. Niño, Stijn L. M. in't Groen, Douglas O. S. de Faria, Marianne Hoogeveen‐Westerveld, Hannerieke J. M. P. van den Hout, Ans T. van der Ploeg, Atze J. Bergsma, W. W. M. Pim Pijnappel

Hum Mutat. 2021 Nov; 42(11): 1461–1472. Published online 2021 Sep 8. doi: 10.1002/humu.24272

PMCID:: PMC9292902

Abstract Article PDF–2.3M

Select item 92666048.

Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study

Magdalena Cerón‐Rodríguez, Daniela Castillo‐García, Carlos‐Patricio Acosta‐Rodríguez‐Bueno, Jesús Aguirre‐Hernández, Juan‐Rafael Murillo‐Eliosa, Pedro Valencia‐Mayoral, Argelia Escobar‐Sánchez, Juan‐Luis Salgado‐Loza

Mol Genet Genomic Med. 2022 Jul; 10(7): e1957. Published online 2022 May 9. doi: 10.1002/mgg3.1957

PMCID:: PMC9266604

Abstract Article PDF–2.6M

Select item 89055849.

To detect potential pathways and target genes in infantile Pompe patients using computational analysis

Aynur Karadağ Gürel, Selçuk Gürel

Bioimpacts. 2022; 12(2): 89–105. Published online 2022 Jan 22. doi: 10.34172/bi.2022.23467

PMCID:: PMC8905584

Abstract Article PDF–6.3M

Select item 855290710.

SARS‐CoV‐2–host proteome interactions for antiviral drug discovery

Xiaonan Liu, Sini Huuskonen, Tuomo Laitinen, Taras Redchuk, Mariia Bogacheva, Kari Salokas, Ina Pöhner, Tiina Öhman, Arun Kumar Tonduru, Antti Hassinen, Lisa Gawriyski, Salla Keskitalo, Maria K Vartiainen, Vilja Pietiäinen, Antti Poso, Markku Varjosalo

Mol Syst Biol. 2021 Nov; 17(11): e10396. Published online 2021 Oct 28. doi: 10.15252/msb.202110396

PMCID:: PMC8552907

Abstract Article PDF–3.9M

Select item 826661711.

Matrix-screening reveals a vast potential for direct protein-protein interactions among RNA binding proteins

Benjamin Lang, Jae-Seong Yang, Mireia Garriga-Canut, Silvia Speroni, Moritz Aschern, Maria Gili, Tobias Hoffmann, Gian Gaetano Tartaglia, Sebastian P Maurer

Nucleic Acids Res. 2021 Jul 9; 49(12): 6702–6721. Published online 2021 Jun 16. doi: 10.1093/nar/gkab490

PMCID:: PMC8266617

Abstract Article PDF–4.0M

Select item 819130212.

Endolysosomal N-glycan processing is critical to attain the most active form of the enzyme acid alpha-glucosidase

Nithya Selvan, Nickita Mehta, Suresh Venkateswaran, Nastry Brignol, Matthew Graziano, M. Osman Sheikh, Yuliya McAnany, Finn Hung, Matthew Madrid, Renee Krampetz, Nicholas Siano, Anuj Mehta, Jon Brudvig, Russell Gotschall, Jill M. Weimer, Hung V. Do

J Biol Chem. 2021 Jan-Jun; 296: 100769. Published online 2021 May 8. doi: 10.1016/j.jbc.2021.100769

PMCID:: PMC8191302

Abstract Article PDF–3.0M

Select item 817776913.

Suppression of lysosomal acid alpha‐glucosidase impacts the modulation of transcription factor EB translocation in pancreatic cancer

Ryoga Hamura, Yoshihiro Shirai, Yohta Shimada, Nobuhiro Saito, Tomohiko Taniai, Takashi Horiuchi, Naoki Takada, Yumi Kanegae, Toru Ikegami, Toya Ohashi, Katsuhiko Yanaga

Cancer Sci. 2021 Jun; 112(6): 2335–2348. Published online 2021 May 3. doi: 10.1111/cas.14921

PMCID:: PMC8177769

Abstract Article PDF–2.4M

Select item 816503014.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 796055015.

USP11 mediates repair of DNA–protein cross-links by deubiquitinating SPRTN metalloprotease

Megan Perry, Meghan Biegert, Sai Sundeep Kollala, Halle Mallard, Grace Su, Manohar Kodavati, Natasha Kreiling, Alexander Holbrook, Gargi Ghosal

J Biol Chem. 2021 Jan-Jun; 296: 100396. Published online 2021 Feb 7. doi: 10.1016/j.jbc.2021.100396

PMCID:: PMC7960550

Abstract Article PDF–1.5M

Select item 776100116.

The Release of a Soluble Glycosylated Protein from Glycogen by Recombinant Lysosomal α-Glucosidase (rhGAA) In Vitro and Its Presence in Serum In Vivo

Allen K. Murray

Biomolecules. 2020 Dec; 10(12): 1613. Published online 2020 Nov 29. doi: 10.3390/biom10121613

PMCID:: PMC7761001

Abstract Article PDF–4.9M

Select item 760600817.

BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A

Chun‐guo Mao, Sha‐sha Jiang, Cheng Shen, Tan Long, Hua Jin, Qun‐You Tan, Bo Deng

Thorac Cancer. 2020 Nov; 11(11): 3326–3336. Published online 2020 Oct 1. doi: 10.1111/1759-7714.13676

PMCID:: PMC7606008

Abstract Article PDF–2.5M

Select item 742846618.

Identification of Undetected Monogenic Cardiovascular Disorders

Jawan W. Abdulrahim, Lydia Coulter Kwee, Fawaz Alenezi, Albert Y. Sun, Aris Baras, Teminioluwa A. Ajayi, Ricardo Henao, Christopher Holley, Robert McGarrah, James P. Daubert, Lauren Truby, Sreekanth Vemulapalli, Andrew Wang, Michel G. Khouri, Svati H. Shah

J Am Coll Cardiol. Author manuscript; available in PMC 2021 Aug 18.

Published in final edited form as: J Am Coll Cardiol. 2020 Aug 18; 76(7): 797–808. doi: 10.1016/j.jacc.2020.06.037

PMCID:: PMC7428466

Abstract Article PDF–890K

Select item 739233419.

Proteome-wide identification of HSP70/HSC70 chaperone clients in human cells

Seung W. Ryu, Rose Stewart, D. Chase Pectol, Nicolette A. Ender, Oshadi Wimalarathne, Ji-Hoon Lee, Carlos P. Zanini, Antony Harvey, Jon M. Huibregtse, Peter Mueller, Tanya T. Paull

PLoS Biol. 2020 Jul; 18(7): e3000606. Published online 2020 Jul 20. doi: 10.1371/journal.pbio.3000606

PMCID:: PMC7392334

Abstract Article PDF–2.7M

Select item 732927020.

Gene-specific features enhance interpretation of mutational impact on acid alpha-glucosidase enzyme activity

Aashish N. Adhikari

Hum Mutat. Author manuscript; available in PMC 2020 Sep 1.

Published in final edited form as: Hum Mutat. 2019 Sep; 40(9): 1507–1518. Published online 2019 Aug 7. doi: 10.1002/humu.23846

PMCID:: PMC7329270

Abstract Article PDF–2.0M

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